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In turn, these have diverged as human populations, colonizing different geographical regions of the world. These specific SNPs are known as mtDNA haplogroups [18]. Different mtDNA haplogroups are associated with major global ethnic groups [19]. The majority of Europeans belong to one of nine haplogroups: H, J, T, U, K, V, W, I, X, with haplogroup H being the most common (44 %) [20]. The geographical variation observed in mtDNA haplogroups could reflect selection acting on specific lineages. Ruiz-Pesini and colleagues hypothesized that certain mtDNA haplogroups cause a decrease in coupling efficiency, leading to lower ATP generation and increased heat production.

These include some neurodegenerative diseases, ageing, and, more recently, survival in human sepsis. Analysis of patients with Parkinson’s disease demonstrated a 22 % reduction in the risk of development of Parkinson’s disease in patients in the UKJT haplogroup cluster [27]. Another study found that European individuals with haplogroup J or K were significantly less likely to develop Parkinson’s disease compared to those with haplogroup H [28]. De Benedictis and co-workers found that in a group of healthy centenarians, haplogroup J was significantly overrepresented, therefore linking haplogroup J with longevity [29].

Haplogroup H has been associated with increased sperm motility and the T haplogroup with reduced motility [33]. A further study illustrates that several sublineages of haplogroup U were associated with differences in sperm motility and vitality [34]. However, the mechanism by which the haplogroup exerts its functional effect upon mitochondria in sperm function is unclear. Differences in haplogroup distributions have been revealed between long distance runners and sprinters in a study of elite Finnish athletes [35], but the number of subjects was small, and this result must be confirmed before firm conclusions can be drawn.